LRBA deficiency

Información en español Title

Other Names:

Combined immunodeficiency due to LRBA deficiency; CID due to LRBA deficiency; Common variable immunodeficiency-8 (CVID8) with autoimmunity; Combined immunodeficiency due to LRBA deficiency; CID due to LRBA deficiency; Common variable immunodeficiency-8 (CVID8) with autoimmunity; LATAIE disease; LRBA deficiency with Autoantibodies, regulatory T cell defects, Autoimmune Infiltration, and Enteropathy See More

Categories:

Congenital and Genetic Diseases; Digestive Diseases; Endocrine Diseases; Congenital and Genetic Diseases; Digestive Diseases; Endocrine Diseases; Immune System Diseases See More

Summary Summary

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.

Orpha Number: 445018

Definition

A rare, genetic, primary immunodeficiency characterized by early onset of recurrent respiratory infections and variable combination of autoimmune disorders, including hemolytic anemia, thrombocytopenic purpura, lymphoproliferative disease, inflammatory bowel disease, colitis, diabetes, arthritis, and dermatitis. Failure to thrive, hepatosplenomegaly and endocrine abnormalities have also been associated. Variable immunologic findings include deficiency of CD4+ T regulatory cells, decreased B-cells, and hypogammaglobulinemia.

Visit the Orphanet disease page for more resources.

Last updated: 3/1/2019

Symptoms Symptoms

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms	Other Names	Learn More: HPO ID
1%-4% of people have these symptoms
Arthritis	Joint inflammation	0001369
Asthma		0002099
Autoimmune hemolytic anemia		0001890
Autoimmune thrombocytopenia		0001973
B lymphocytopenia	Low B cell count	0010976
Bronchiectasis	Permanent enlargement of the airways of the lungs	0002110
Chronic atrophic gastritis		0002582
Chronic diarrhea		0002028
Chronic lung disease		0006528
Chronic neutropenia		0410252
Clubbing of fingers	Clubbed fingers Clubbing (hands) Finger clubbing [ more ]	0100759
Colitis		0002583
Conjunctivitis	Pink eye	0000509
Decreased circulating IgA level		0002720
Decreased circulating IgG level		0004315
Decreased circulating total IgM		0002850
Decreased proportion of class-switched memory B cells		0030388
Decreased specific antibody response to vaccination		0032140
Erythema nodosum		0012219
Failure to thrive	Faltering weight Weight faltering [ more ]	0001508
Generalized lymphadenopathy	Generalized swelling of lymph nodes Swollen lymph nodes affecting all regions of the body [ more ]	0008940
Growth delay	Delayed growth Growth deficiency Growth failure Growth retardation Poor growth Retarded growth [ more ]	0001510
Hypothyroidism	Underactive thyroid	0000821
Lymphoma	Cancer of lymphatic system	0002665
Lymphoproliferative disorder		0005523
Pancytopenia	Low blood cell count	0001876
Psoriasiform lesion		0025526
Recurrent otitis media	Recurrent middle ear infection	0000403
Recurrent pneumonia		0006532
Recurrent sinusitis		0011108
Sepsis	Infection in blood stream	0100806
Splenomegaly	Increased spleen size	0001744
Thyroiditis	Thyroid gland inflammation	0100646
Type I diabetes mellitus	Type 1 diabetes Type I diabetes [ more ]	0100651
Uveitis		0000554
Villous atrophy		0011473
Vitiligo	Blotchy loss of skin color	0001045
Percent of people who have these symptoms is not available through HPO
Autosomal recessive inheritance		0000007
Immunodeficiency	Decreased immune function	0002721

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Last updated: 2/1/2021

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Learn More Learn More

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

In-Depth Information

Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.

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